Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | Ocular |
Therapies under research |
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Further information |
References
- AlFadhli S, Abdelmoaty S, Al-Hajeri A, Behbehani A, Alkuraya F. Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity. Mol Vis. 2012;18:2931‐2936
- Li L, Chang B, Cheng C, et al. Dense nuclear cataract caused by the gammaB-crystallin S11R point mutation. Invest Ophthalmol Vis Sci. 2008;49(1):304‐309
- Shiloh Y, Donlon T, Bruns G, Breitman ML, Tsui LC. Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36. Hum Genet. 1986;73(1):17‐19